Literature DB >> 30289595

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.

Laura M McDonell1, Gordon Ka-Chun Leung2, Hussein Daoud3, Janice Ip4, Stella Chim2, Ho Ming Luk5, Lawrence Lan6, Kym M Boycott1, Brian Hon-Yin Chung2.   

Abstract

Entities:  

Keywords:  diaphragm/diagnostic imaging; genes, Ras; hypertension, renovascular; lipomatosis/genetics; mutation, missense; neurocutaneous syndromes/diagnosis; proto-oncogene; renal-artery obstruction

Mesh：

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Year:  2018        PMID： 30289595     DOI： 10.1002/ajmg.a.40349

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL.

Authors:  Kaiyun Yang; Justin Wang; Nisha Kanwar; Anita Villani; Olufemi Ajani; Adam Fleming; Vikas Patil; Yasin Mamatjan; Qingxia Wei; David Malkin; Adam Shlien; Gelareh Zadeh; John Provias
Journal:  Brain Tumor Pathol       Date:  2022-06-06       Impact factor: 3.154

2.  Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome.

Authors:  Anthony J Penington; Ingrid E Scheffer; Michael S Hildebrand; Timothy E Green; Duncan MacGregor; Susan M Carden; Rebekah V Harris; Chelsee A Hewitt; Samuel F Berkovic
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09

3.  Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant.

Authors:  Whitney Eng; Christopher L Sudduth; Dennis J Konczyk; Patrick J Smits; Amir H Taghinia; Steven J Fishman; Ahmad Alomari; Denise M Adams; Arin K Greene
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09
  3 in total

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